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Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.48-69

2017

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The 2017 international classification of the Ehlers–Danlos syndromes

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.8-26

2017

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Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

Developmental dynamics, 2021-03, Vol.250 (3), p.318-344

2021

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Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Genetics in medicine, 2010-10, Vol.12 (10), p.597-605

2010

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The evidence‐based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.158-167

2017

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Neurological and spinal manifestations of the Ehlers–Danlos syndromes

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.195-211

2017

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A framework for the classification of joint hypermobility and related conditions

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.148-157

2017

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Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.40-47

2017

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The Ehlers–Danlos syndromes, rare types

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.70-115

2017

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Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers‐Danlos syndrome at the University of Miami

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1502-1507

2023

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Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum

American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1583-1588

2022

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Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

European journal of human genetics : EJHG, 2023-07, Vol.31 (7), p.749-760

2023

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Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes

American Journal of Physiology: Cell Physiology, 2022-12, Vol.323 (6), p.C1843-C1859

2022

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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

Matrix biology, 2018-09, Vol.70, p.72-83

2018

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Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.484-492

2020

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Laryngological Complaint Prevalence in Hypermobile Ehlers‐Danlos or Hypermobility Spectrum Disorders

The Laryngoscope, 2024-02, Vol.134 (2), p.773-778

2024

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Longitudinal analysis of symptoms in the Ehlers‐Danlos syndromes

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1204-1213

2022

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Urogenital and pelvic complications in the Ehlers‐Danlos syndromes and associated hypermobility spectrum disorders: A scoping review

Clinical genetics, 2020-01, Vol.97 (1), p.168-178

2020

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Splenic artery pathology presentation, operative interventions, and outcomes in 88 patients with vascular Ehlers-Danlos syndrome

Journal of vascular surgery, 2023-08, Vol.78 (2), p.394-404

2023

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An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

Haemophilia : the official journal of the World Federation of Hemophilia, 2019-07, Vol.25 (4), p.558-566

2019

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Vascular Ehlers-Danlos syndrome with a Novel missense COL3A1 gene mutation present with bilateral spontaneous carotid-cavernous fistula: a case report

Acta neurochirurgica, 2023-12, Vol.165 (12), p.3799-3804

2023

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Rare neurological manifestations in a Saudi Arabian patient with Ehlers–Danlos syndrome and a novel homozygous variant in the TNXB gene

American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.618-623

2022

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Picrosirius Red Staining: A Useful Tool to Appraise Collagen Networks in Normal and Pathological Tissues

The journal of histochemistry and cytochemistry, 2014-10, Vol.62 (10), p.751-758

2014

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Lysyl Oxidase Activity Is Required for Ordered Collagen Fibrillogenesis by Tendon Cells

The Journal of biological chemistry, 2015-06, Vol.290 (26), p.16440-16450

2015

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Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history

The 2017 international classification of the Ehlers–Danlos syndromes

Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

The evidence‐based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome

Neurological and spinal manifestations of the Ehlers–Danlos syndromes

A framework for the classification of joint hypermobility and related conditions

Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

The Ehlers–Danlos syndromes, rare types

Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers‐Danlos syndrome at the University of Miami

Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review

Laryngological Complaint Prevalence in Hypermobile Ehlers‐Danlos or Hypermobility Spectrum Disorders

Longitudinal analysis of symptoms in the Ehlers‐Danlos syndromes

Urogenital and pelvic complications in the Ehlers‐Danlos syndromes and associated hypermobility spectrum disorders: A scoping review

A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome

Splenic artery pathology presentation, operative interventions, and outcomes in 88 patients with vascular Ehlers-Danlos syndrome

An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

Vascular Ehlers-Danlos syndrome with a Novel missense COL3A1 gene mutation present with bilateral spontaneous carotid-cavernous fistula: a case report

Rare neurological manifestations in a Saudi Arabian patient with Ehlers–Danlos syndrome and a novel homozygous variant in the TNXB gene

Picrosirius Red Staining: A Useful Tool to Appraise Collagen Networks in Normal and Pathological Tissues

Lysyl Oxidase Activity Is Required for Ordered Collagen Fibrillogenesis by Tendon Cells

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